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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

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author: Salvatore Rizza  Angela Maria Amorini  Andrea Bartuli  Sabina Barresi  Marcello Niceta  Emanuele Bellacchio  Marco Tartaglia  Ginevra Zanni  Enrico Bertini 

Publication date August 2, 2017
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